NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) AND Familial Mediterranean fever

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000083773.4

Allele description [Variation Report for NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])]

NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
HGVS:
  • NC_000016.10:g.3254679TTCCCCTCG[3]
  • NG_007871.1:g.6934AGGGGAACG[3]
  • NM_000243.3:c.374AGGGGAACG[3]MANE SELECT
  • NM_001198536.2:c.277+1617AGGGGAACG[3]
  • NP_000234.1:p.125EGN[3]
  • LRG_190t1:c.383_391dup
  • LRG_190:g.6934AGGGGAACG[3]
  • NC_000016.9:g.3304676_3304677insCGTTCCCCT
  • NC_000016.9:g.3304679TTCCCCTCG[3]
  • NM_000243.1:c.382_390dup
  • NM_000243.2:c.383_391dup
  • NM_000243.2:c.383_391dupAGGGGAACG
Links:
dbSNP: rs104895121
NCBI 1000 Genomes Browser:
rs104895121
Molecular consequence:
  • NM_000243.3:c.374AGGGGAACG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001198536.2:c.277+1617AGGGGAACG[3] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial Mediterranean fever (FMF)
Synonyms:
POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115869Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

SCV001139893Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001394201Invitaecriteria provided, single submitter
Uncertain significance
(Oct 16, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001457156Natera, Inc.no assertion criteria providedUncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Mendelics, SCV001139893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001394201.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant, c.383_391dup, results in the insertion of 3 amino acid(s) to the MEFV protein (p.Glu128_Asn130dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752170064, ExAC 0.005%). This variant has not been reported in the literature in individuals with MEFV-related conditions. ClinVar contains an entry for this variant (Variation ID: 97521). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001457156.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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